Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.H32R

CHPT1

102 papers

Pfam Domains

CDP-OH_P_transfaa 60–220UCSCCDP-alcohol phosphatidyltransferase

Gene Aliases

HGNC Name

choline phosphotransferase 1

HGNC Alias Symbol

CPT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020244.3
p.H32R
c.95A>G
Surrounding Variants
1 paper
NM_020244.3
p.E31K
c.91G>A
1 paper
NM_020244.3
p.R28_A36delFs
c.84_108del25
1 paper
NM_020244.3
p.V39V
c.117C>T
1 paper
NM_020244.3
p.A24T
c.70G>A
1 paper
NM_020244.3
p.E43E
c.129G>A
1 paper
NM_020244.3
p.P44L
c.131C>T
1 paper
NM_020244.3
p.P20insFs
c.59dupC
1 paper
NM_020244.3
p.L46L
c.136C>T
1 paper
NM_020244.3
p.L48F
c.142C>T
1 paper
NM_020244.3
p.L48_Y49del1
c.143_145delTCT
1 paper
NM_020244.3
p.L48delFs
c.144delC
1 paper
NM_020244.3
p.R15K
c.44G>A
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